Tremor and ataxia in fragile X premutation carriers: Blinded videotape study
Abstract
Fragile X premutation carriers do not have typical fragile X syndrome (FXS) although late‐onset progressive action tremor and gait disorder with CNS atrophy was recently reported in male carriers. We compared tremor, gait disorder and parkinsonian signs in FXS premutation subjects (age 50 or more) and a similar control population, using a standardized videotaping protocol. Videotapes were rated using standard scales for tremor (CRST), ataxia (ICARS), and parkinsonian signs (UPDRS) by an investigator blinded to premutation status. Compared to all other groups pooled (n = 30), the male premutation carrier group (n = 7) had significantly higher scores on the CRST (p = 0.0008), ICARS (p = 0.001), and UPDRS (p = 0.0094). On the CRST, rest, postural and kinetic tremor scores were all higher in the male carriers. The elevated total UPDRS and ICARS scores mainly resulted from markedly higher scores for tremor and limb ataxia, respectively. The female carrier (n = 14) and control groups (n = 8) did not differ on any measure. The FMR1 premutation is associated with increased levels of CGG repeat‐containing FMR1 mRNA, which may predispose to these symptoms by interfering with nuclear mechanisms. Given the relatively high population frequency of the FMR1 premutation, this mutation may be a significant cause of late‐onset “idiopathic” progressive tremor. Ann Neurol 2003
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There is evidence that DA functioning may be atypical in FXS, as shown by high rates of comorbidity with tremor disorders, higher blink rates, and emerging preclinical models.
“However, there is evidence that DA functioning may be atypical in FXS, as shown by high rates of comorbidity with tremor disorders [725], higher blink rates [726], and emerging preclinical models [714].”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [725]
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Self-citationThe fragile x-associated tremor and ataxia syndrome (FXTAS)
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Self-citation
- Authors
- Berry‐Kravis, E., Lewin, F., Wuu, J., Leehey, M., Hagerman, R., Hagerman, P., & Goetz, C. G.
- Affiliations
- Rush University Medical Center (US)
- University of California Davis Medical Center (US)
- Corresponding author
- Berry‐Kravis, Elizabeth
- ORCID
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2003-03-28
- Volume
- 53
- Issue
- 5
- Pages
- 616-623
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2059514979
- Cited by
- 109
- References
- 33
- Citations by year
- 2026: 1 · 2025: 3 · 2022: 1 · 2021: 4 · 2020: 6 · 2019: 3 · 2016: 3 · 2014: 4 · 2013: 5 · 2012: 5
- FWCI
- 6.52
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS043532, NS 43532)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Neurology › Neurological disorders and treatments
- Keywords
- fragile X premutation, FMR1 gene, action tremor, ataxia, parkinsonian signs, gait disturbance, CGG repeat expansion, FMR1 mRNA, sex differences, male carriers
- MeSH terms
- Aged, Ataxia, Atrophy, Central Nervous System, DNA Mutational Analysis, Female, Fragile X Syndrome, Heterozygote, Humans, Male, Middle Aged, RNA, Messenger, Tremor, Videotape Recording, Point Mutation
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